Abstract：
Forensic DNA Phenotyping (FDP) can reveal the appearance of an unknown individual by predicting the ancestry, phenotype (i.e., hair, eye, skin color), and age from DNA obtained at the crime scene. The HIrisPlex system has been developed to simultaneously predict eye and hair color. However, the prediction accuracy of the system needs to be assessed for the tested population before implementing FDP in casework. In this study, we evaluated the performance of the HIrisPlex system on 149 individuals from the Turkish population. We applied the single-based extension (SNaPshot chemistry) method and used the HIrisPlex online tool to test the prediction of the eye and hair colors. The accuracy of the HIrisPlex system was assessed through the calculation of the area under the receiver characteristic operating curves (AUC), sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). The results showed that the proposed method successfully predicted the eye and hair color, especially for blue (100%) and brown (95.60%) eye and black (95.23) and brown (98.94) hair colors. As observed in previous studies, the system failed to predict intermediate eye color, representing 25% in our cohort. The majority of incorrect predictions were observed for blond hair color (40.7%). Previous HIrisPlex studies have also noted difficulties with these phenotypes. Our study shows that the HIrisPlex system can be applied to forensic casework in Turkey with careful interpretation of the data, particularly intermediate eye color and blond hair color.
摘要：
法医DNA表型（FDP）可以通过预测祖先来揭示未知个体的外观，表型(即，头发,眼睛,肤色)，以及在犯罪现场获得的DNA的年龄.HIrisPlex系统已开发用于同时预测眼睛和头发的颜色。然而,在个案工作中实施FDP之前，需要对系统的预测准确性进行评估。在这项研究中,我们评估了HIrisPlex系统在149名土耳其人中的性能.我们应用了基于单的扩展（SNaPshot化学）方法，并使用了HIrisPlex在线工具来测试眼睛和头发颜色的预测。HIrisPlex系统的准确性是通过计算接收器特征工作曲线（AUC）下的面积来评估的，灵敏度,特异性，阳性预测值(PPV)，和阴性预测值(NPV)。结果表明，该方法成功地预测了眼睛和头发的颜色，特别是蓝色（100％）和棕色（95.60％）的眼睛和黑色（95.23）和棕色（98.94）的头发颜色。正如在以前的研究中观察到的，系统无法预测中间眼睛的颜色，在我们的队列中占25%。大多数不正确的预测是观察到的金发颜色（40.7％）。先前的HIrisPlex研究也注意到这些表型的困难。我们的研究表明，通过仔细解释数据，HIrisPlex系统可以应用于土耳其的法医案件工作，特别是中间的眼睛颜色和金色的头发颜色。
